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Xeroderma pigmentosum is a definite cause of Huntington's disease‐like syndrome

Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntington's disease‐like syndromes. The first case (g...

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Bibliografiske detaljer
Udgivet i:Ann Clin Transl Neurol
Main Authors: Garcia‐Moreno, Hector, Fassihi, Hiva, Sarkany, Robert P.E., Phukan, Julie, Warner, Thomas, Lehmann, Alan R., Giunti, Paola
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5771320/
https://ncbi.nlm.nih.gov/pubmed/29376097
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.511
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